Aurora magazine

A Canadian and Australian team found a gene that makes cancer more aggressive prostate. Men with the BRCA2 mutation are more likely to develop a cancer resistant to treatments. In 50% of cases, an aggressive prostate cancer becomes lethal within 5 years of diagnosis. The discovery will help develop new treatments for the most aggressive forms of cancer.

In men with the mutation of the BRCA2 gene, prostate tumors are aggressive right from the start. The gene is responsible in fact the regulation of cell growth. For this reason, the tumors associated with BRCA2 are more resistant to traditional therapies of normal and more prone to metastasis.

Researchers compared 15 patients with BRCA2 mutated with other 500 suffering from sporadic prostate cancer, ie without genetic causes. The analyzes showed that the tumors of the first group have the abnormal molecular pathways. These include pathways linked to DNA repair and cell division. In sporadic cancers, such routes are developed at a later time, when the mass becomes resistant to hormone therapy and form metastases.

The mutation of the BRCA2 gene affects approximately 2% of men with prostate cancer. Nevertheless, the research lays the foundation for a personalized approach to treating prostate cancer. It puts into light the need to develop alternative therapies, which prevent the most aggressive forms of cancer and reduce the risk of metastases. They would be essential alternative roads where conventional treatments do not work.

Source: uhn.ca

Is there a gene responsible for physical activity and is called TFEB. It is a discovery dating back to 2009, but the Telethon Institute of Genetics and Medicine in Naples researchers have discovered a new gene function. In fact, the TFEB gene also regulates muscle activity, a function that could be used against diabetes and obesity.

The gene acts in the event of physical effort and allows to muscle cells to access the energy required, by the expression of specific genes. In addition to this, TFEB controls how the body responds to physical activity and how much energy comes to working muscles. The researchers observed the mice in which the gene was not working: their muscle cells were unable to produce enough energy to power the physical effort. It followed that the mice were not able to sustain physical activity for extended periods. In contrast, mice with more active than average TFEB had an extraordinary resistance.

The discovery could give a major boost in the fight against diabetes, muscular dystrophies and atrophies, obesity. The fact TFEB gene regulates the metabolism and the use of glucose: being able to modulate it would burn more easily the excess glucose, or increase the basal metabolic rate and calorie expenditure. For now the research is just beginning, but the goal is to create drugs designed to act on TFEB.

Source: ansa.it

A study of the National Institutes of Health confirms what many women already knew: Premenstrual syndrome is a real disease. For a long time doctors have considered little more than an imaginary illness, but now they know the causes. The sense of irritability, mild depression and anxiety that affect many women before the loop originate in a genetic anomaly.

The researchers analyzed the molecular mechanisms that underlie the "premenstrual dysphoric disorder", a rare version of PMS. The disorder affects between 2% and 5% of women and the cause would be in the abnormal behavior of a group of genes. The anomaly concerns the genes that control estrogen and progesterone, the main female sex hormones. In optimal conditions, these allow the organism to respond to external stress during the cycle.

The study looked at the DNA of white blood cells of women with a severe form of premenstrual syndrome. major differences emerged compared to the DNA of those, however, he never gave a sign of disorders of the kind. The discovery could lead to the development of specific treatments, to help women who suffer the most disabling version of the syndrome.

Many women have discovered the BRCA mutations Angelina Jolie when she underwent preventive mastectomy and oophorectomy. A decision according to many radical, due to the diagnosis of a particular mutation in its DNA that would increase in an important way the risk of cancer. The mutation is precisely that of the BRCA genes.

The mutation in the BRCA 1 and BRCA 2 genes causes the development of a mutated version of the corresponding proteins. Under normal conditions, these would be part of a variety of repair proteins. Their task would erase damage from DNA of cells, made by external factors such as smoking or radiation. In the case of mutations, the cells of the breast and ovaries accumulate errors in their DNA and turn into cancer cells. The mutation of BRCA 1 and BRCA 2 genes is caused most often by environmental factors, but in some cases is due to heredity.

Abnormalities in genes BRCA 1 and BRCA 2 are connected either to breast cancer than to the ovary. Who presents the anomaly has a risk of developing a breast cancer that goes from 60% to 90%. As for the ovarian cancer risk ranges between 15% and 50%. The odds depend on the type of anomaly and the family history and, if particularly high, may lead to preventive mastectomy and oophorectomy. These choices, although very radical, are sometimes the only way to face a sentence otherwise almost certain.

Breast cancer is the most common among women and is also one of the easiest to deal with. Five years after diagnosis, 89% of patients survive. Ovarian cancer is much less common but far more deadly. The symptoms are hard to detect and to five years of diagnosis, only 46% of patients survive. That's why it is good that women with a family history marked by such tumors carry specific DNA testing. There are also monitoring of tumor markers techniques, so as to check for any suspicious elevations.